Assessment of patient-centered outcomes in young children with differences of sex development

Abstract

Patient-reported outcome measures (PROMs) are key to evaluating the real-life impact of care, particularly for individuals with differences/disorders of sex development (DSD). DSDs are congenital and life-long conditions, most often ascertained in infancy or adolescence, and are characterized by atypical chromosomal, gonadal, or phenotypic sex. PROMs capture vital aspects of health-related quality of life (HRQoL) and psychosocial well-being from the perspective of patients and caregivers, complementing traditional clinical outcomes. Despite their importance, there is a paucity of validated, DSD-specific PRO measures available across the lifespan, resulting in challenges for standardized assessment and clinical benchmarking. Recent developments have led to the creation and validation of shortened, condition-specific HRQoL questionnaires for young children with DSD and their parents, which demonstrate strong psychometric properties and good clinical acceptability. Integrating regular assessments with these PROMs, especially those tailored for DSD, into routine care and rare disease registries can support ongoing monitoring, facilitate timely psychosocial interventions, and enable robust evaluation of intervention effectiveness. However, several barriers to implementation remain, including respondent burden, variability in comprehension, cultural sensitivity, and the need for specialized personnel to interpret results and translate them into practical recommendations. Stigma associated with DSD can further hinder engagement, potentially resulting in under identification of those most in need. Future strategies should focus on the use of validated, culturally adapted PROMs across all age ranges, regular assessment intervals, and electronic integration within health records and registries. Incorporating PROMs enable a holistic, patient-centered approach to care for individuals with DSD, supporting improved outcomes and better informed shared decision making.